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Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology |
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| Authors: | Elisabete Peres Resende Maria Teresa Xavier Sérgio Matos Ana C Antunes Henriqueta Coimbra Silva |
| Institution: | 1. Faculty of Medicine, Dentistry Department, University of Coimbra, Coimbra, Portugal;2. Faculty of Medicine, Dentistry Department, University of Coimbra, Coimbra, Portugal
Faculty of Medicine, Institute of Pediatric and Preventive Dentistry, University of Coimbra, Coimbra, Portugal Elisabete Peres Resende and Teresa Xavier shared the first authorship;3. Faculty of Medicine, Dentistry Department, University of Coimbra, Coimbra, Portugal Faculty of Medicine, Institute of Periodontology, University of Coimbra, Coimbra, Portugal Faculty of Medicine, Center for Innovation and Research in Oral Sciences (CIROS), University of Coimbra, Coimbra, Portugal;4. Faculty of Medicine, Institute of Medical Genetics, University of Coimbra, Coimbra, Portugal Faculty of Medicine, Coimbra Institute for Clinical and Biomedical Research (iCBR), University of Coimbra, Coimbra, Portugal |
| Abstract: | Our aim is to describe a family with a nonsyndromic form of hereditary gingival fibromatosis (HGF) and discuss genetic characteristics of this rare disease by reviewing reported cases. A mother and three descendants were diagnosed with HGF. There was marked variable expressivity: from severe generalized gingival overgrowth in a 16-year-old boy (the proband) to minimal manifestations in the mother. The proband was submitted to gingivectomy and gingivoplasty. In younger siblings, the disease remained stable for 5 years, suggesting that clinical surveillance is a good option. The diagnosis was supported by histopathological examination. Analysis of this family and literature-reported cases supports that HGF most frequently shows an autosomal dominant inheritance with high penetrance and variable expressivity. Neomutations and gonadal mosaicism do not seem to be a rare event. Although five loci have been mapped by linkage analysis, only two genes, SOS1 and REST, were identified in four families. |
| Keywords: | gingival hypertrophy gingival overgrowth gingivectomy hereditary gingival fibromatosis |